A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv957229



Internal ID15904499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48310704..48549198hg38UCSC Ensembl
Innerchr22:48706516..48945010hg19UCSC Ensembl
Innerchr22:47085180..47323674hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38238495
hg19238495
hg18238495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv589147
Supporting Variants
Samples
Known GenesFAM19A5, LOC284933
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv957229
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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